Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.C16W
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RHCE

NM_020485.8:p.C16W

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_1

RHCE genotyping using next generation sequencing: Allele specific reference sequences.

Tounsi WA et al.

Transfusion, 2025

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2017-2279A1.xls › SNVIndel

Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population.

Shao LN et al.

Vox Sanguinis, 2023

Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma.

Vodicka R et al.

Diagnostics (basel, Switzerland), 2021

Insights into anti-D formation in carriers of RhD variants through studies of 3D intraprotein interactions.

Floch A et al.

Transfusion, 2021

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

Classification of major and minor blood group antigens in the Kuwaiti Arab population.

Ameen R et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Evolutionary genetics of the human Rh blood group system.

Perry GH et al.

Human Genetics, 2012

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 2009

Alloanti-c/ce in a c+ceAR/Ce patient suggests that the rare RHCE ceAR allele (ceAR) encodes a partial c antigen.

Peyrard T et al.

Transfusion, 2009

Alloanti-c (RH4) revealing that the (C)ce s haplotype encodes a partial c antigen.

Pham BN et al.

Transfusion, 2009

[Comparison between genotyping and serological phenotyping in RhCE blood group].

Zhou HY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

The Dc(G48)e(s) haplotype is frequent among the Dce haplotypes within a white population.

Cotorruelo CM et al.

Transfusion, 2007

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

Molecular basis of the JAHK (RH53) antigen.

Scharberg EA et al.

Transfusion, 2005

Deletion of arginine codon 229 in the Rhce gene alters e and f but not c antigen expression.

Chen YX et al.

Transfusion, 2004

Weakened expression of 'e' owing to concomitant occurrence of Cys16 and Val245 (VS antigen).

Rodrigues A et al.

Vox Sanguinis, 2004

Molecular background of D(C)(e) haplotypes within the white population.

Noizat-Pirenne F et al.

Transfusion, 2002

Heterogeneity of blood group RhE variants revealed by serological analysis and molecular alteration of the RHCE gene and transcript.

Noizat-Pirenne F et al.

British Journal of Haematology, 1998

Insights into the structure and function of membrane polypeptides carrying blood group antigens.

Cartron JP et al.

Vox Sanguinis, 1998

Molecular genetic basis of the human Rhesus blood group system.

Mouro I et al.

Nature Genetics, 1993

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